Abstract Introduction Down syndrome (DS) is the most common chromosomal disorder. It accompanied by several comorbidities, which could lead to severe morbidity and mortality. Congenital heart disease (CHD) one of commonly described condition. Objective This study aimed determine clinical profiles, dysmorphic features, CHD, DS associated comorbidities in a tertiary center (Cairo, Egypt). Patient...

The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensor...

Human faces exhibit enormous variation. When pathological conditions are superimposed on normal variation, a nearly unbroken series of facial morphologies is produced. When viewed in full, this spectrum ranges from cyclopia and hypotelorism to hypertelorism and facial duplications. Decreased Hedgehog pathway activity causes holoprosencephaly and hypotelorism. Here, we show that excessive Hedgeh...

Basal encephalocele is a rare craniofacial anomaly. In the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. During preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. Magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. Neurosurgical...

basal encephalocele is a rare craniofacial anomaly. in the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. during preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. neurosurgical...

To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

Although disfiguring abnormalities of the face have been a problem to the plastic surgeon for many years and the accompanying embarrassment and morbidity have equally exercised the ingenuity of the psychiatrist, there is yet neither satisfactory treatment nor an adequate mask to shield the sufferer. Accordingly, the search for the cause and possible means of prevention has been intensively purs...

Frontoethmoidal encephaloceles are herniations of the intracranial contents through a defect in the skull at the junction of the frontal and ethmoidal bones. They are generally classified as nasofrontal, nasoethmoidal, and naso-orbital, although there may be some overlap or multiplicity. The records of 35 patients treated for frontoethmoidal encephaloceles were examined. Of these, 12 cases with...